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Genomics of Rare Diseases: Understanding Disease Genetics Using
Genomic Approaches, a new volume in the Translational and Applied
Genomics series, offers readers a broad understanding of current
knowledge on rare diseases through a genomics lens. This clear
understanding of the latest molecular and genomic technologies used
to elucidate the molecular causes of more than 5,000 genetic
disorders brings readers closer to unraveling many more that remain
undefined and undiscovered. The challenges associated with
performing rare disease research are also discussed, as well as the
opportunities that the study of these disorders provides for
improving our understanding of disease architecture and
pathophysiology. Leading chapter authors in the field discuss
approaches such as karyotyping and genomic sequencing for the
better diagnosis and treatment of conditions including recessive
diseases, dominant and X-linked disorders, de novo mutations,
sporadic disorders and mosaicism.
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